SMN1 Antilichaam / Overleving van Motor Neuron

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by loss of motor neurons in the spinal cord. SMA is caused by deletion or loss-of-function mutations of SMN (survival of motor neuron) gene. SMN, also known as Gemin1, SMN1, SMNT and BCD541, exists as four isoforms produced by alternative splicing. SMN is oligomeric and forms a complex with Gemin2 (formerly SIP1), Gemin3 (a DEAD box RNA helicase), Gemin4, Gemin5 and Gemin6, as well as several spliceosomal snRNP proteins. The SMN complex plays an essential role in splicesomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing of the nucleus. The SMN complex is found in both the cytoplasm and the nucleus. The nuclear form is concentrated in subnuclear bodies called gems (gemini of the coiled bodies) . Cytoplasmic SMN interacts with spliceosomal Sm proteins and facilitates their assembly onto U snRNAs, and nuclear SMN mediates recycling of pre-mRNA splicing factors. Nearly identical telomeric and centromeric forms of SMN encode the same protein; however, only mutations in the telomeric form are associated with the disease-state SMA. SMN is expresed in a wide variety of tissues including brain, kidney, liver, spinal cord and moderately in skeletal and cardiac muscle.

Immunohistochemistry (FFPE) : 1-2 µg/mL

Q16637

Human

A recombinant full-length human SMN1 protein was used as the immunogen for the SMN1 antibody.

SMN1/1596

IHC-P

Protein G affinity

Purified

This SMN1 antibody is available for research use only.

Aliquot the SMN1 antibody and store frozen at -20°C or colder. Avoid repeated freeze-thaw cycles.

1 mg/mL in 1X PBS; BSA free, sodium azide free

Optimal dilution of the SMN1 antibody should be determined by the researcher.

Nucleus

IHC staining of FFPE human testis tissue with SMN1 antibody (clone SMN1/1596) . Inset: PBS used in place of primary Ab (secondary Ab negative control) . HIER: boil tissue sections in pH 9 10mM Tris with 1mM EDTA for 20 min and allow to cool before testing.